Immunodeficiency, and Autistic behavior

Diseases related with Immunodeficiency and Autistic behavior

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Autistic behavior that can help you solving undiagnosed cases.

Top matches:

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Other less relevant matches:

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Low match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Top 5 symptoms//phenotypes associated to Immunodeficiency and Autistic behavior

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Autism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Autistic behavior. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Pointed chin Obesity Wide nasal bridge Deeply set eye Microcephaly Long philtrum Muscular hypotonia Hypertelorism Hearing impairment Strabismus Ventriculomegaly Posteriorly rotated ears Motor delay Epicanthus Hyperactivity Gastroesophageal reflux Macrotia Cognitive impairment Feeding difficulties Malar flattening Bulbous nose Behavioral abnormality Smooth philtrum Abnormality of the dentition Hypermetropia Sleep disturbance Scoliosis Low-set ears Ventricular septal defect Inguinal hernia Atrial septal defect Attention deficit hyperactivity disorder Broad forehead Ptosis Facial asymmetry Short nose Pneumonia Cryptorchidism Abnormal facial shape Depressed nasal bridge Intellectual disability, mild Growth delay Midface retrusion Frontal bossing

Rare Symptoms - Less than 30% cases

Agenesis of corpus callosum EEG abnormality Dental malocclusion Dilatation Hernia High palate Micropenis Vesicoureteral reflux Microretrognathia Full cheeks Abnormality of the pinna Thick eyebrow Congenital diaphragmatic hernia Dolichocephaly Hydronephrosis Microphthalmia Neonatal hypotonia Small hand Clinodactyly of the 5th finger Umbilical hernia Tapered finger Renal cyst Underdeveloped nasal alae Micrognathia Dental crowding Renal dysplasia Recurrent pyelonephritis Aggressive behavior Protruding ear 2-3 toe syndactyly High, narrow palate Abnormality of the genital system Abnormality of the outer ear Toe syndactyly Intrauterine growth retardation Patent ductus arteriosus Abnormality of cardiovascular system morphology Myopia Anteverted nares Hair-pulling Long eyelashes Cerebellar cortical atrophy Bruxism Arachnoid cyst Palpebral edema Impaired pain sensation Hypoplastic toenails Large hands Recurrent skin infections Sacral dimple Accelerated skeletal maturation Lymphedema Hypohidrosis Constipation Nausea and vomiting Combined immunodeficiency Low-set, posteriorly rotated ears Severe combined immunodeficiency Cerebral visual impairment Periorbital fullness Postnatal growth retardation Short stature Cleft palate High forehead Developmental regression Intellectual disability, moderate Tall stature Abnormal cardiac septum morphology Biparietal narrowing Downslanted palpebral fissures Hypoplasia of the corpus callosum Highly arched eyebrow Long face Prominent nasal bridge Absent speech Polycystic kidney dysplasia Polyhydramnios Prominent supraorbital ridges Joint laxity Muscular hypotonia of the trunk Narrow mouth Feeding difficulties in infancy Upslanted palpebral fissure Hypogonadism Recurrent upper respiratory tract infections Camptodactyly of finger Small for gestational age Severe global developmental delay Joint hyperflexibility Arachnodactyly Thin vermilion border Clinodactyly Polymicrogyria Short palm Wide nose Iris coloboma Poor head control Single transverse palmar crease Delayed myelination Pes cavus Wide nasal base Cellulitis Widely-spaced maxillary central incisors Long nose Syringomyelia Arnold-Chiari type I malformation Severe intrauterine growth retardation Multiple renal cysts Missing ribs Hydrocele testis Optic nerve coloboma Tongue thrusting Hyperorality Pulmonary artery atresia Chorioretinitis Absent nasal bridge Hypospadias Nystagmus Toenail dysplasia Episodic vomiting Delayed CNS myelination Concave nasal ridge Heat intolerance Growth hormone deficiency Brachydactyly Intellectual disability, severe Hypertonia Poor eye contact Weak cry Abnormality of the periventricular white matter Short thumb Interphalangeal joint contracture of finger Pain Broad-based gait Hepatitis Thick vermilion border Hepatic failure Unsteady gait Irritability Anxiety Hyporeflexia Headache Diarrhea Vomiting Gait disturbance Abnormality of the proximal phalanx of the thumb Intestinal atresia Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Anophthalmia Dysplastic corpus callosum Anisocoria Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Thick hair Nephrolithiasis Small nail Increased intracranial pressure Thick lower lip vermilion Fine hair Open mouth Abnormality of nervous system morphology Cafe-au-lait spot Sparse and thin eyebrow Hoarse voice Narrow face Bilateral single transverse palmar creases Sandal gap Widely spaced teeth Nasal speech Abnormality of the voice Abnormality of the thorax Microphallus Proximal placement of thumb Cupped ear Radial deviation of finger Mild short stature Slender finger Abnormality of digit Short chin Insomnia High anterior hairline Multicystic kidney dysplasia Thick upper lip vermilion Overlapping fingers Chronic diarrhea Unilateral renal agenesis Ventricular tachycardia Language impairment Tented upper lip vermilion Poikilocytosis Extramedullary hematopoiesis Giant platelets Congenital neutropenia Myelofibrosis Kyphosis Cleft lip Short philtrum Oral cleft Everted lower lip vermilion Convex nasal ridge Narrow forehead Laryngomalacia Enlarged kidney Acne Everted upper lip vermilion Dysphagia Myopathy Syndactyly Depressivity Encephalopathy Arrhythmia Abnormal heart morphology Prominent forehead Hypothyroidism Thin upper lip vermilion Hypoglycemia Anisocytosis Increased antibody level in blood Hip dislocation Pancytopenia Apraxia Speech apraxia Dermal translucency Broad eyebrow Proptosis Microtia Abnormality of the foot Febrile seizures Neoplasm Fever Hepatosplenomegaly Lymphadenopathy Decreased antibody level in blood Lymphopenia Leukopenia Increased head circumference Postnatal macrocephaly Failure to thrive Anemia Hepatomegaly Blindness Splenomegaly Thrombocytopenia Abnormality of the nervous system Neutropenia Increased bone mineral density Increased body weight Recurrent bacterial infections Hypertrophic cardiomyopathy Carious teeth Hand polydactyly Congestive heart failure Perimembranous ventricular septal defect Torsade de pointes Cutaneous syndactyly of toes Biventricular hypertrophy Frontal balding Abnormality of dental color T-wave alternans Atrioventricular dissociation Abnormal direction of ventricular apex Hypertension Short neck Respiratory insufficiency Polydactyly Amelogenesis imperfecta Wide mouth Blepharophimosis Coloboma Talipes Flat face Renal agenesis Psychosis Short toe Hemivertebrae Narrow palpebral fissure Aortic regurgitation Pyloric stenosis Bilateral ptosis Hypothermia Protruding tongue Joint hypermobility Bradycardia Coma Hypoplasia of the maxilla Sudden cardiac death Syncope Round face Esotropia Microdontia Tetralogy of Fallot Cardiomegaly Pulmonary arterial hypertension Abnormality of the face Hypoplasia of dental enamel Sinusitis Cardiac arrest Cutaneous finger syndactyly Hypocalcemia Abnormality of dental enamel Cutaneous syndactyly Ventricular arrhythmia Optic nerve hypoplasia Atrioventricular block Patent foramen ovale Obsessive-compulsive behavior Ventricular fibrillation Multiple joint contractures Prolonged QT interval Mixed hearing impairment Bronchitis Fulminant hepatic failure


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Single transverse palmar crease, related diseases and genetic alterations Abnormality of the skeletal system and Bulbous nose, related diseases and genetic alterations Ventricular septal defect and Abnormality of movement, related diseases and genetic alterations